Product Details

SNP ID

rs76489557

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:143726123 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGCAGCAGCCGATCGCGCTCCTCC[A/G]CGCTGGCTGGCAGCGTGCGGCTCAG

Phenotype

MIM: 611927

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FAM83H PubMed Links

Gene Details

Gene

FAM83H

Gene Name

family with sequence similarity 83 member H

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198488.3	4603	Missense Mutation	GCG,GTG	A1113V	NP_940890.3
XM_005250887.3	4603	Missense Mutation	GCG,GTG	A1132V	XP_005250944.1
XM_005250888.3	4603	Missense Mutation	GCG,GTG	A1119V	XP_005250945.1
XM_005250889.3	4603	Missense Mutation	GCG,GTG	A1113V	XP_005250946.1
XM_011516980.2	4603	Missense Mutation	GCG,GTG	A1314V	XP_011515282.2
XM_011516981.2	4603	Missense Mutation	GCG,GTG	A1169V	XP_011515283.1

Gene

FAM83H-AS1

Gene Name

FAM83H antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

Gene

MAPK15

Gene Name

mitogen-activated protein kinase 15

There are no transcripts associated with this gene.

Gene

MIR4664

Gene Name

microRNA 4664

There are no transcripts associated with this gene.

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